Dataset Information

A Prospective Study of Genetic Variants in Infants with Congenital Unilateral Sensorineural Hearing Loss.

ABSTRACT: Children with unilateral sensorineural hearing loss (uSNHL) have a high risk of speech-language delays and academic difficulties. Still, challenges remain in the diagnosis of uSNHL. With a prospective cross-sectional design, 20 infants were consecutively recruited from a universal newborn hearing screening program and invited to genetic testing. Eighteen of the subjects agreed to genetic testing, 15 subjects with OtoSCOPE^® v.9 screening 224 genes, and four subjects underwent targeted testing, screening for chromosomal abnormalities or 105-137 gene mutations. The genetic results were described together with the 20 infants' previously published auditory profiles and imaging results. Genetic causes for the uSNHL were found in 28% of subjects (5/18) including CHARGE syndrome (CHD7), autosomal recessive non-syndromic hearing loss (GJB2), Townes-Brocks syndrome (SALL1), Pendred Syndrome (SLC26A4) and Chromosome 8P inverted duplication and deletion syndrome. In subjects with comorbidities (malformation of fingers, anus, brain, and heart), 100% were diagnosed with a genetic cause for uSNHL (3/3 subjects), while 13% (2/15 subjects) were diagnosed without comorbidities observed at birth (p = 0.002). Genetic testing for congenital uSNHL is currently efficient for alleged syndromes, whereas genetic variants for non-syndromic congenital uSNHL need further research.

SUBMITTER: Johansson M

PROVIDER: S-EPMC9860725 | biostudies-literature | 2023 Jan

REPOSITORIES: biostudies-literature

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A Prospective Study of Genetic Variants in Infants with Congenital Unilateral Sensorineural Hearing Loss.

Johansson Marlin M Karltorp Eva E Asp Filip F Berninger Erik E

Journal of clinical medicine 20230107 2

Children with unilateral sensorineural hearing loss (uSNHL) have a high risk of speech-language delays and academic difficulties. Still, challenges remain in the diagnosis of uSNHL. With a prospective cross-sectional design, 20 infants were consecutively recruited from a universal newborn hearing screening program and invited to genetic testing. Eighteen of the subjects agreed to genetic testing, 15 subjects with OtoSCOPE<sup>®</sup> v.9 screening 224 genes, and four subjects underwent targeted ...[more]

PMID: 36675424

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Project description:IntroductionSudden sensorineural hearing loss (SSHL) is a critical otologic emergency characterized by a rapid decline of at least 30 dB across three consecutive frequencies in the pure-tone audiogram within a 72-hour period. This audiological condition has been associated with alterations in brain cortical and subcortical structures, as well as changes in brain functional activities involving multiple networks. However, the extent of cerebral intrinsic brain activity disruption in SSHL remains poorly understood. The aimed of this study is to investigate intrinsic brain activity alterations in SSHL using static and dynamic fractional amplitude of low-frequency fluctuation (fALFF) analysis.MethodsResting-state functional magnetic resonance imaging (fMRI) data were acquired from a cohort of SSHL patients (unilateral, n = 102) and healthy controls (n = 73). Static and dynamic fALFF methods were employed to analyze the acquired fMRI data, enabling a comprehensive examination of intrinsic brain activity changes in SSHL.ResultsOur analysis revealed significant differences in static fALFF patterns between SSHL patients and healthy controls. SSHL patients exhibited decreased fALFF in the left fusiform gyrus, left precentral gyrus, and right inferior frontal gyrus, alongside increased fALFF in the left inferior frontal gyrus, left superior frontal gyrus, and right middle temporal gyrus. Additionally, dynamic fALFF analysis demonstrated elevated fALFF in the right superior frontal gyrus and right middle frontal gyrus among SSHL patients. Intriguingly, we observed a positive correlation between static fALFF in the left fusiform gyrus and the duration of hearing loss, shedding light on potential temporal dynamics associated with intrinsic brain activity changes.DiscussionThe observed disruptions in intrinsic brain activity and temporal dynamics among SSHL patients provide valuable insights into the functional reorganization and potential compensatory mechanisms linked to hearing loss. These findings underscore the importance of understanding the underlying neural alterations in SSHL, which could pave the way for the development of targeted interventions and rehabilitation strategies aimed at optimizing SSHL management.

Dataset Information

A Prospective Study of Genetic Variants in Infants with Congenital Unilateral Sensorineural Hearing Loss.

Publications

A Prospective Study of Genetic Variants in Infants with Congenital Unilateral Sensorineural Hearing Loss.

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